MLH1 c.1276C>T ;(p.Q426*)

Variant ID: 3-37067365-C-T

NM_000249.3(MLH1):c.1276C>T;(p.Q426*)

This variant was identified in 14 publications

View GRCh38 version.




Publications:


Molecular Alterations in Cutaneous Squamous Cell Carcinoma in Immunocompetent and Immunosuppressed Hosts-A Systematic Review.

Cancers
Tsang, Denise Ann DA; Tam, Steve Y C SYC; Oh, Choon Chiat CC
Publication Date: 2023-03-17

Variant appearance in text: MLH1: Q426*
PubMed Link: 36980718
Variant Present in the following documents:
  • Main text
  • cancers-15-01832.pdf
View BVdb publication page



Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: MLH1: 1276C>T; Gln426Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Case report: Undifferentiated sarcoma with multiple tumors involved in Lynch syndrome: Unexpected favorable outcome to sintilimab combined with chemotherapy.

Frontiers In Oncology
Liu, Jiaying J; Chang, Xiaona X; Xiao, Guixiang G; Zhong, Jingmin J; Huang, Bo B; Zhang, Jiwei J; Gao, Beibei B; Peng, Gang G; Nie, Xiu X
Publication Date: 2022

Variant appearance in text: MLH1: 1276C>T; Gln426Ter
PubMed Link: 36457512
Variant Present in the following documents:
  • Main text
  • fonc-12-1014859.pdf
View BVdb publication page



The Prevalence of Pathogenic or Likely Pathogenic Germline Variants in a Nationwide Cohort of Young Colorectal Cancer Patients Using a Panel of 18 Genes Associated with Colorectal Cancer.

Cancers
Frostberg, Erik E; Petersen, Annabeth Høgh AH; Bojesen, Anders A; Rahr, Hans Bjarke HB; Lindebjerg, Jan J; Rønlund, Karina K
Publication Date: 2021-10-12

Variant appearance in text: MLH1: 1276C>T; Gln426Ter
PubMed Link: 34680242
Variant Present in the following documents:
  • Main text
  • cancers-13-05094.pdf
View BVdb publication page



A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: MLH1: 1276C>T; Gln426Ter; rs63750316
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page



Clinical and Molecular Assessment of Patients with Lynch Syndrome and Sarcomas Underpinning the Association with MSH2 Germline Pathogenic Variants.

Cancers
de Angelis de Carvalho, Nathália N; Niitsuma, Bianca Naomi BN; Kozak, Vanessa Nascimento VN; Costa, Felipe D'almeida FD; de Macedo, Mariana Petaccia MP; Kupper, Bruna Elisa Catin BEC; Silva, Maria Letícia Gobo MLG; Formiga, Maria Nirvana MN; Volc, Sahlua Miguel SM; Aguiar Junior, Samuel S; Palmero, Edenir Inez EI; Casali-da-Rocha, José Cláudio JC; Carraro, Dirce Maria DM; Torrezan, Giovana Tardin GT
Publication Date: 2020-07-09

Variant appearance in text: MLH1: 1276C>T; Gln426Ter
PubMed Link: 32659967
Variant Present in the following documents:
  • Main text
  • cancers-12-01848.pdf
View BVdb publication page



Germline MLH1, MSH2 and MSH6 variants in Brazilian patients with colorectal cancer and clinical features suggestive of Lynch Syndrome.

Cancer Medicine
Schneider, Nayê Balzan NB; Pastor, Tatiane T; Paula, André Escremim de AE; Achatz, Maria Isabel MI; Santos, Ândrea Ribeiro Dos ÂRD; Vianna, Fernanda Sales Luiz FSL; Rosset, Clévia C; Pinheiro, Manuela M; Ashton-Prolla, Patricia P; Moreira, Miguel Ângelo Martins MÂM; Palmero, Edenir Inêz EI; ,
Publication Date: 2018-05

Variant appearance in text: MLH1: 1276C>T; Gln426Ter; rs63750316
PubMed Link: 29575718
Variant Present in the following documents:
  • Main text
  • CAM4-7-2078.pdf
View BVdb publication page



Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.

Molecular Genetics & Genomic Medicine
DeRycke, Melissa S MS; Gunawardena, Shanaka S; Balcom, Jessica R JR; Pickart, Angela M AM; Waltman, Lindsey A LA; French, Amy J AJ; McDonnell, Shannon S; Riska, Shaun M SM; Fogarty, Zachary C ZC; Larson, Melissa C MC; Middha, Sumit S; Eckloff, Bruce W BW; Asmann, Yan W YW; Ferber, Matthew J MJ; Haile, Robert W RW; Gallinger, Steven S; Clendenning, Mark M; Rosty, Christophe C; Win, Aung K AK; Buchanan, Daniel D DD; Hopper, John L JL; Newcomb, Polly A PA; Le Marchand, Loic L; Goode, Ellen L EL; Lindor, Noralane M NM; Thibodeau, Stephen N SN
Publication Date: 2017-09

Variant appearance in text: MLH1: 1276C>T; Gln426*; rs63750316
PubMed Link: 28944238
Variant Present in the following documents:
  • MGG3-5-553-s002.xlsx, sheet 1
View BVdb publication page



A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America.

Bmc Cancer
Rossi, Benedito Mauro BM; Palmero, Edenir Inêz EI; López-Kostner, Francisco F; Sarroca, Carlos C; Vaccaro, Carlos Alberto CA; Spirandelli, Florencia F; Ashton-Prolla, Patricia P; Rodriguez, Yenni Y; de Campos Reis Galvão, Henrique H; Reis, Rui Manuel RM; Escremim de Paula, André A; Capochin Romagnolo, Luis Gustavo LG; Alvarez, Karin K; Della Valle, Adriana A; Neffa, Florencia F; Kalfayan, Pablo German PG; Spirandelli, Enrique E; Chialina, Sergio S; Gutiérrez Angulo, Melva M; Castro-Mujica, Maria Del Carmen MDC; Sanchez de Monte, Julio J; Quispe, Richard R; da Silva, Sabrina Daniela SD; Rossi, Norma Teresa NT; Barletta-Carrillo, Claudia C; Revollo, Susana S; Taborga, Ximena X; Morillas, L Lena LL; Tubeuf, Hélène H; Monteiro-Santos, Erika Maria EM; Piñero, Tamara Alejandra TA; Dominguez-Barrera, Constantino C; Wernhoff, Patrik P; Martins, Alexandra A; Hovig, Eivind E; Møller, Pål P; Dominguez-Valentin, Mev M
Publication Date: 2017-09-05

Variant appearance in text: MLH1: 1276C>T
PubMed Link: 28874130
Variant Present in the following documents:
  • 12885_2017_Article_3599.pdf
View BVdb publication page



Hereditary cancer syndromes in Latino populations: genetic characterization and surveillance guidelines.

Hereditary Cancer In Clinical Practice
Cruz-Correa, Marcia M; Pérez-Mayoral, Julyann J; Dutil, Julie J; Echenique, Miguel M; Mosquera, Rafael R; Rivera-Román, Keila K; Umpierre, Sharee S; Rodriguez-Quilichini, Segundo S; Gonzalez-Pons, Maria M; Olivera, Myrta I MI; Pardo, Sherly S; ,
Publication Date: 2017

Variant appearance in text: MLH1: 1276C>T; Gln426*
PubMed Link: 28127413
Variant Present in the following documents:
  • Main text
  • 13053_2017_Article_63.pdf
View BVdb publication page



Clinical and Molecular Characterization of Brazilian Patients Suspected to Have Lynch Syndrome.

Plos One
Carneiro da Silva, Felipe F; Ferreira, José Roberto de Oliveira JR; Torrezan, Giovana Tardin GT; Figueiredo, Márcia Cristina Pena MC; Santos, Érika Maria Monteiro ÉM; Nakagawa, Wilson Toshihiko WT; Brianese, Rafael Canfield RC; Petrolini de Oliveira, Ligia L; Begnani, Maria Dirlei MD; Aguiar-Junior, Samuel S; Rossi, Benedito Mauro BM; Ferreira, Fábio de Oliveira Fde O; Carraro, Dirce Maria DM
Publication Date: 2015

Variant appearance in text: MLH1: 1276C>T; Gln426*
PubMed Link: 26437257
Variant Present in the following documents:
  • Main text
  • pone.0139753.pdf
View BVdb publication page



Lynch Syndrome in patients with clear cell and endometrioid cancers of the ovary.

Gynecologic Oncology
Vierkoetter, Koah R KR; Ayabe, Asia R AR; VanDrunen, Maya M; Ahn, Hyeong Jun HJ; Shimizu, David M DM; Terada, Keith Y KY
Publication Date: 2014-10

Variant appearance in text: MLH1: Q426X
PubMed Link: 25093288
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutation spectrum in South American Lynch syndrome families.

Hereditary Cancer In Clinical Practice
Dominguez-Valentin, Mev M; Nilbert, Mef M; Wernhoff, Patrik P; López-Köstner, Francisco F; Vaccaro, Carlos C; Sarroca, Carlos C; Palmero, Edenir Ines EI; Giraldo, Alejandro A; Ashton-Prolla, Patricia P; Alvarez, Karin K; Ferro, Alejandra A; Neffa, Florencia F; Caris, Junea J; Carraro, Dirce M DM; Rossi, Benedito M BM
Publication Date: 2013-12-18

Variant appearance in text: MLH1: 1276C>T; Q426X
PubMed Link: 24344984
Variant Present in the following documents:
  • Main text
  • 1897-4287-11-18.pdf
View BVdb publication page



Functional examination of MLH1, MSH2, and MSH6 intronic mutations identified in Danish colorectal cancer patients.

Bmc Medical Genetics
Petersen, Sanne M SM; Dandanell, Mette M; Rasmussen, Lene J LJ; Gerdes, Anne-Marie AM; Krogh, Lotte N LN; Bernstein, Inge I; Okkels, Henrik H; Wikman, Friedrik F; Nielsen, Finn C FC; Hansen, Thomas V O TV
Publication Date: 2013-10-03

Variant appearance in text: MLH1: 1276C>T; Gln426X
PubMed Link: 24090359
Variant Present in the following documents:
  • Main text
  • 1471-2350-14-103.pdf
View BVdb publication page